I work as a mitochondrial diagnostic technician within the NCG Mitochondrial Diagnostic Service. My main role is to provide technical support to the molecular genetics team, who work to analyse patient samples and identify DNA variants to provide a genetic diagnosis. Working in this team has provided me with an opportunity to see how different specialisms such as histochemistry, biochemistry, and genetics combine to provide an accurate diagnosis.
I was inspired to work within a genetic diagnostic lab after studying genetic disorders and the importance of genetic and reproductive counselling. At the NCG Mitochondrial Diagnostic service new technologies are used to continually improve the patient service. This helps to ensure we can provide a quick and accurate diagnosis to families affected by mitochondrial disorders. This is vital given the debilitating effect these disorders can have on people’s lives.